A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1898347



Internal ID17830513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:87477897..87490331hg38UCSC Ensembl
Innerchr11:87188939..87201373hg19UCSC Ensembl
Innerchr11:86866587..86879021hg18UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3812435
hg1912435
hg1812435
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975211
Supporting Variants
SamplesHGDP00998
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1898347
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer